Cargando…
The Utility of CSF for the Diagnosis of Primary and Secondary Monoamine Neurotransmitter Deficiencies
Biogenic amine defects constitute a complex and expanding group of neurotransmitter disorders affecting cognitive, motor and autonomic system development, mostly in the pediatric age. In recent years different enzymatic defects have been identified impairing the tetrahydrobiopterin cofactor pathway...
Autores principales: | Burlina, A.B., Celato, A., Polo, G., Edini, C., Burlina, A.P. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Communications and Publications Division (CPD) of the IFCC
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5387700/ https://www.ncbi.nlm.nih.gov/pubmed/28439219 |
Ejemplares similares
-
Quality of Life (QoL) assessment in a cohort of patients with Phenylketonuria
por: Cazzorla, Chiara, et al.
Publicado: (2014) -
Neonatal Expanded Screening toward lysosomal storage disorders
por: Burlina, Alberto, et al.
Publicado: (2015) -
SMN deficiency perturbs monoamine neurotransmitter metabolism in spinal muscular atrophy
por: Valsecchi, Valeria, et al.
Publicado: (2023) -
Neurophysiological assessment of juvenile parkinsonism due to primary monoamine neurotransmitter disorders
por: Passaretti, Massimiliano, et al.
Publicado: (2022) -
Clinical Features and Pharmacotherapy of Childhood Monoamine Neurotransmitter Disorders
por: Ng, J., et al.
Publicado: (2014)